Influences génétiques et environnementales sur les mesures structurelles cérébrales chez des jumeaux présentant un trouble du spectre de l’autisme

Titre original en anglais : Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder

Cette publication est incluse dans le projet « Contributions académiques de personnes autistes sur l’autisme ». un auteur·ice de cette publication est identifié·e comme autiste dans le projet.

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Hegarty, J. P., Pegoraro, L. F. L., Lazzeroni, L. C., Raman, M. M., Hallmayer, J. F., Monterrey, J. C., Cleveland, S. C., Wolke, O. N., Phillips, J. M., Reiss, A. L., & Hardan, A. Y. (2019). Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder. Molecular Psychiatry, 25(10), 2556-2566. https://doi.org/10.1038/s41380-018-0330-z

Date de publication: 18/01/2019 Ajout dans AutiHub: 05/10/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
11
Auteur·ices de la publication identifié·es comme autistes
1 / 11 (9,1 %)
  1. John P. Hegarty *
  2. Luiz F L Pegoraro
  3. Laura C. Lazzeroni
  4. Mira M. Raman
  1. Joachim F. Hallmayer
  2. Julio C Monterrey
  3. Sue C. Cleveland
  4. Olga N. Wolke
  1. Jennifer M. Phillips
  2. Allan L. Reiss
  3. Antonio Y. Hardan

Résumé

Résumé Des profils de croissance atypiques du cerveau ont été précédemment rapportés dans le trouble du spectre de l’autisme (TSA), mais ces altérations sont hétérogènes d’un individu à l’autre, ce qui peut être associé aux effets variables des influences génétiques et environnementales sur le développement cérébral. Des paires de jumeaux monozygotes (MZ) et dizygotes (DZ), avec et sans TSA (âgés de 6 à 15 ans), ont été recrutées pour participer à cette étude. Des IRM pondérées en T1 (n = 164) ont été traitées avec FreeSurfer afin d’évaluer des mesures structurelles cérébrales. Des corrélations intraclasse ont été examinées au sein des paires de jumeaux et comparées entre les groupes diagnostiques. Une modélisation ACE a également été réalisée. Les mesures structurelles cérébrales, y compris le volume de matière grise (MG) et de matière blanche (MB) cérébrales et cérébelleuses, l’aire de surface et l’épaisseur corticale, étaient principalement influencées par des facteurs génétiques chez les jumeaux TD ; toutefois, la courbure moyenne semblait être principalement influencée par des facteurs environnementaux. De même, les facteurs génétiques expliquaient la majorité de la variation de la taille cérébrale chez les jumeaux présentant un TSA, potentiellement dans une plus grande mesure en ce qui concerne la courbure et la MG sous-corticale ; toutefois, les jumeaux présentant un TSA montraient également davantage de contributions environnementales pour certaines mesures structurelles cérébrales, de sorte que l’épaisseur corticale et le volume de MB cérébelleuse étaient principalement influencés par des facteurs environnementaux. Ces résultats indiquent des conséquences neurobiologiques potentielles des facteurs de risque génétiques et environnementaux précédemment associés au TSA et, bien que préliminaires, peuvent aider à rendre compte d’une partie de l’hétérogénéité neurobiologique précédemment décrite entre les individus concernés. Cela est particulièrement pertinent concernant le rôle des facteurs génétiques et environnementaux dans le développement du TSA, dans lequel certaines structures cérébrales peuvent être plus sensibles à des influences spécifiques.

Abstract Atypical growth patterns of the brain have been previously reported in autism spectrum disorder (ASD) but these alterations are heterogeneous across individuals, which may be associated with the variable effects of genetic and environmental influences on brain development. Monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD (aged 6–15 years) were recruited to participate in this study. T1-weighted MRIs (n = 164) were processed with FreeSurfer to evaluate structural brain measures. Intra-class correlations were examined within twin pairs and compared across diagnostic groups. ACE modeling was also completed. Structural brain measures, including cerebral and cerebellar gray matter (GM) and white matter (WM) volume, surface area, and cortical thickness, were primarily influenced by genetic factors in TD twins; however, mean curvature appeared to be primarily influenced by environmental factors. Similarly, genetic factors accounted for the majority of variation in brain size in twins with ASD, potentially to a larger extent regarding curvature and subcortical GM; however, there were also more environmental contributions in twins with ASD on some structural brain measures, such that cortical thickness and cerebellar WM volume were primarily influenced by environmental factors. These findings indicate potential neurobiological outcomes of the genetic and environmental risk factors that have been previously associated with ASD and, although preliminary, may help account for some of the previously outlined neurobiological heterogeneity across affected individuals. This is especially relevant regarding the role of genetic and environmental factors in the development of ASD, in which certain brain structures may be more sensitive to specific influences.

Bibliographie citée par cette référence

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Références citées
83
Avec un DOI
72
Sans DOI, à partir du texte brut de la bibliographie
11
1 / 83 (1,2 %) références citées comprennent au moins une personne identifiée comme autiste.
Références avec données à compléter
10 / 83 (12,0 %)
Références avec noms d’auteurices détectés
75 / 83 (90,4 %)
Sans nom d’auteurice détecté
8
Sans titre structuré
10
Sans identifiant stable
11
Références avec noms bruts d’auteurices restant à vérifier
8
Références avec problème de récupération des métadonnées externes
0
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Noms d’auteurices détectés dans la bibliographie citée
472
À partir du DOI ou de métadonnées externes
472
À partir du texte brut validé de la bibliographie
0
Noms bruts déjà validés
0
Noms bruts restant à vérifier
14
66 / 472 (14,0 %) noms sont associés à un·e auteurice déjà présent·e dans AutiHub. 406 / 472 (86,0 %) noms ne sont pas encore associés.
Noms associés à une personne identifiée comme autiste
1 / 472 (0,2 %)
Calculé sur l’ensemble des noms d’auteurices détectés dans la bibliographie citée. Parmi les noms associés à un·e auteurice déjà présent·e dans AutiHub : 1 / 66 (1,5 %). Personnes distinctes identifiées comme autistes : 1 / 398 (0,3 %).
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